Canonical Allele Identifier: CA460021539
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1435318702
gnomAD v3: 8-24956725-G-A
gnomAD v4: 8-24956725-G-A
MyVariant Identifiers: chr8:g.24814239G>A (hg19) chr8:g.24956725G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956725G>A , CM000670.2:g.24956725G>A GRCh38
NC_000008.10:g.24814239G>A , CM000670.1:g.24814239G>A GRCh37
NC_000008.9:g.24870156G>A NCBI36
NG_008492.1:g.4893C>T , LRG_259:g.4893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-210C>T ENSP00000482169.1:n.-210C>T
NM_006158.4:c.-210C>T , LRG_259t1:c.-210C>T NP_006149.2:n.-210C>T
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